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Characterization of two constitutively active prolactin receptor variants in a cohort of 95 women with multiple breast fibroadenomas.
Courtillot C, Chakhtoura Z, Bogorad R, Genestie C, Bernichtein S, Badachi Y, Janaud G, Akakpo JP, Bachelot A, Kuttenn F, Goffin V, Touraine P; Benign Breast Diseases Study Group. Courtillot C, et al. Among authors: Touraine P. J Clin Endocrinol Metab. 2010 Jan;95(1):271-9. doi: 10.1210/jc.2009-1494. Epub 2009 Nov 6. J Clin Endocrinol Metab. 2010. PMID: 19897676
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.
Méduri G, Bachelot A, Duflos C, Bständig B, Poirot C, Genestie C, Veitia R, De Baere E, Touraine P. Méduri G, et al. Among authors: Touraine P. Hum Reprod. 2010 Jan;25(1):235-43. doi: 10.1093/humrep/dep355. Epub 2009 Oct 9. Hum Reprod. 2010. PMID: 19819892
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
Voican A, Bachelot A, Bouligand J, Francou B, Dulon J, Lombès M, Touraine P, Guiochon-Mantel A. Voican A, et al. Among authors: Touraine P. J Clin Endocrinol Metab. 2013 May;98(5):E1017-21. doi: 10.1210/jc.2012-4111. Epub 2013 Mar 29. J Clin Endocrinol Metab. 2013. PMID: 23543655
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA. Laissue P, et al. Among authors: Touraine P. Eur J Endocrinol. 2006 May;154(5):739-44. doi: 10.1530/eje.1.02135. Eur J Endocrinol. 2006. PMID: 16645022
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. Bidet M, et al. Among authors: Touraine P. J Clin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582. Epub 2009 Feb 10. J Clin Endocrinol Metab. 2009. PMID: 19208730
Contrasting with the absence of clinical differences, basal testosterone, and androstenedione, basal and post-ACTH 17-hydroxyprogesterone were significantly higher in probands carrying at least one severe mutation than in those with two mild mutations (P < 0.01). ...
Contrasting with the absence of clinical differences, basal testosterone, and androstenedione, basal and post-ACTH 17-hydroxyprogesterone we …
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
Bouvattier C, Esterle L, Renoult-Pierre P, de la Perrière AB, Illouz F, Kerlan V, Pascal-Vigneron V, Drui D, Christin-Maitre S, Galland F, Brue T, Reznik Y, Schillo F, Pinsard D, Piguel X, Chabrier G, Decoudier B, Emy P, Tauveron I, Raffin-Sanson ML, Bertherat J, Kuhn JM, Caron P, Cartigny M, Chabre O, Dewailly D, Morel Y, Touraine P, Tardy-Guidollet V, Young J. Bouvattier C, et al. Among authors: Touraine P. J Clin Endocrinol Metab. 2015 Jun;100(6):2303-13. doi: 10.1210/jc.2014-4124. Epub 2015 Mar 30. J Clin Endocrinol Metab. 2015. PMID: 25822101
Severe oligospermia or azoospermia was found in 42% of patients and was significantly more prevalent in men with TARTs (70%) than in men with normal testes (3.6%; P < .0001). ...
Severe oligospermia or azoospermia was found in 42% of patients and was significantly more prevalent in men with TARTs (70%) than in men wit …
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M. Cohen E, et al. Among authors: Touraine P. J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158. J Clin Endocrinol Metab. 2017. PMID: 27820671
RESULTS: We identified 7 heterozygous variations, including p.(Tyr131*), p.(Arg48Thrfs*104), c.606+1G>T, p.Arg65Val, p.Thr163Pro, p.Arg221Gln, and p.Arg235Gln), that were associated with variable expressivity; 5 of the 7 were also associated with incomplete penetrance. The p.(Tyr131*), p.(Arg48Thrfs*104), p.Ala65Val, p.Thr163Pro, and p.Arg221Gln LHX4 variants are unable to transactivate the POU1F1 and GH promoters. ...
RESULTS: We identified 7 heterozygous variations, including p.(Tyr131*), p.(Arg48Thrfs*104), c.606+1G>T, p.Arg65Val, …
[Congenital hypogonadotropic hypogonadism].
Roze C, Touraine P, Leger J, de Roux N. Roze C, et al. Among authors: Touraine P. Ann Endocrinol (Paris). 2009 Mar;70(1):2-13. doi: 10.1016/j.ando.2008.06.005. Epub 2009 Feb 5. Ann Endocrinol (Paris). 2009. PMID: 19200533 French.
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